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Anti-C9orf72 Antibody
Catalog #: 144-63999
C9orf72 pAb
Product Description
Specifications
| Size | 20 µL, 100 µL |
| Estimated Lead Time | 1-2 weeks |
| Species | Human, Mouse, Rat |
| Host Species | Rabbit |
| Accession Number | Q96LT7 |
| Gene Id | 203228 |
| Gene Symbols | C9orf72 |
| Protein Name / Synonyms | C9orf72, ALSFTD, DENNL72, FTDALS, FTDALS1, protein C9orf72 |
| Isotype | IgG |
| Purity | Affinity purification |
| Buffers | PBS with 0.02% sodium azide, 50% glycerol, pH7.3 |
| Recommended Applications | Western Blotting, IHC |
| Research Area | Autophagy |
| Shipping Type | Blue ice |
| Storage | -20°C |
Description
Background
The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms.
Dilutions
WB 1:500 - 1:2000; IHC 1:50 - 1:100
Format
Calculated MW
24kDa/54kDa
Observed MW
54kDa
Immunogen
Recombinant fusion protein containing a sequence corresponding to amino acids 1-230 of human C9orf72 (NP_060795.1).
Modification
Unmodified
Storage
Store at -20°. Avoid freeze / thaw cycles.
Images
Expiration:
12 months from the date of shipment when stored properly.